Department of Public Health, University Miguel Hernández, Alicante, Spain.
CIBER Epidemiology and Public Health (CIBERESP), Madrid, Spain.
Clin Chem. 2018 Nov;64(11):1657-1667. doi: 10.1373/clinchem.2018.292854. Epub 2018 Sep 13.
Despite considerable research investment, moving from biomarker discovery to clinical application has presented unique challenges. We aimed to evaluate progress toward clinical application of a sample of molecular- and "omics"-based diagnostic tests over a 10-year period.
We used Scopus to locate studies, published before the December 31, 2016, citing 107 original-research articles published in 2006 that assessed the diagnostic value of a molecular- or "omics"-based test. We identified diagnostic studies of the same test and disease and determined whether the article represented progress in the validation of the molecular test. We classified the types of progress: () clinical validation (measuring diagnostic accuracy in a series of patients similar to the population in which the test will be used in practice), () technical improvement, () extended diagnostic application (modification of the diagnostic question attended initially by the test), () economic evaluation, or () clinical use or implementation.
In the 10-year period analyzed, 4257 articles cited the 107 diagnostic studies; 118 (2.8%) were diagnostic studies of the same test, and of these papers, 25 (21.2%) did not constitute progress toward validation of the test for use in clinical practice (potential research waste). Of the 107 molecular- or "omics"-based tests described in 2006, only 28 (26.2%) appeared to have made progress toward clinical application. Only 4 (9.1%) of 44 proteomics-based tests had made progress toward clinical application.
Articles evaluating molecular- or "omics"-based diagnostic tests are numerous in biomedical journals. Few tests have made progress toward clinical application in the 10 years following their discovery.
尽管投入了大量的研究资金，但从生物标志物的发现到临床应用仍然存在独特的挑战。我们旨在评估在 10 年期间，对分子和“组学”为基础的诊断测试进行临床应用的进展。
我们使用 Scopus 查找在 2016 年 12 月 31 日之前发表的，引用了 2006 年发表的 107 篇原始研究文章的研究，这些文章评估了基于分子或“组学”的测试的诊断价值。我们确定了相同测试和疾病的诊断研究，并确定文章是否代表分子测试验证方面的进展。我们将进展的类型分为以下几类：（1）临床验证（在与实际应用中测试所涉及的人群相似的一系列患者中测量诊断准确性）、（2）技术改进、（3）扩展诊断应用（测试最初关注的诊断问题的修改）、（4）经济评估或（5）临床使用或实施。
在分析的 10 年期间，有 4257 篇文章引用了这 107 项诊断研究；其中 118 篇（2.8%）是相同测试的诊断研究，而这些论文中有 25 篇（21.2%）并没有构成该测试在临床实践中使用的验证方面的进展（潜在的研究浪费）。在 2006 年描述的 107 种基于分子或“组学”的测试中，只有 28 种（26.2%）似乎在向临床应用方面取得了进展。只有 44 种基于蛋白质组学的测试中的 4 种（9.1%）取得了向临床应用的进展。
在生物医学期刊上发表的评估分子或“组学”为基础的诊断测试的文章数量众多。在发现后的 10 年内，很少有测试在临床应用方面取得进展。
